purpose: to compare clinical and confocal scan outcomes after descemet stripping automated endothelial keratoplasty (dsaek) performed for fuchs’ endothelial dystrophy versus pseudophakic bullous keratopathy. methods: in this retrospective comparative study, 47 consecutive eyes of 39 patients with the diagnosis of fuchs’ endothelial dystrophy (n=29, group 1) or pseudophakic bullous keratopathy (...

myotonic dystrophy (dm), one of the most common forms of muscular dystrophy, is an inherited disorder of the muscles and other body systems. dm is a progressive genetic disorder with a triplet repeat autosomal mutation that affects an estimated 1 in 8000 people. myotonic dystrophy type 1, also known as steinerts disease, and type 2 caused by mutation in dmpk and cnbp genes, respectively. in eac...

Thiel-Behnke corneal dystrophy, or honeycomb is an autosomal dominant disorder. Tissue engineering can be a novel approach to regenerate this dystrophy. In study, the geometry of dystrophy mimicked with 3D printing technology, and 40% PMMA, PMMA/(0.1, 0.5, 2, 10)% VAN scaffolds were fabricated geometry. As result biocompatibility test mesenchymal stem cells (MSCs), it said that on showed high v...

Background: The TTN gene is related to a broad phenotype spectrum including tibial muscular dystrophy, hereditary myopathy with respiratory failure, limb girdle dystrophy 2J and dilated or hypertrophic cardiomyopathy. In 2014, Chauveau et al, described phenotypes cardiac septal defects, left ventricular non-compaction, Emery-Dreifuss arthrogryposis. 2020, Savarese showed most of patients bialle...

Pathogenic variants in ITGB4 cause various forms of autosomal recessive epidermolysis bullosa (EB). encodes integrin-β4, which plays a critical role the maintenance skin basement membrane integrity. Here, we aimed to delineate genetic basis dominant isolated nail dystrophy 2 families. We studied total five affected individuals with and no other cutaneous or extra-cutaneous findings. Whole exome...

congenital muscular dystrophy (cmd)  is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...

Muscular dystrophies are a heterogeneous class of inherited disorders presenting with different clinical, genetic, and biochemical features. Muscular dystrophies include Duchennemuscular dystrophy (DMD) and Becker muscular dystrophy (BMD) myotonic dystrophy (DM), oculopharyngeal muscular dystrophy (OPMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), dist...

The pertinent literature on inherited corneal diseases is reviewed in terms of the chromosomal localization and identification of the responsible genes. Disorders affecting the cornea have been mapped to human chromosome 1 (central crystalline corneal dystrophy, familial subepithelial corneal amyloidosis, early onset Fuchs dystrophy, posterior polymorphous corneal dystrophy), chromosome 4 (Biet...

purpose: to introduce a patient with best disease and fluctuation in vision and oct changes. case report: a 26-year-old man presented with decreased va in his left eye due to cnv secondary to best disease. va improved after ivb injection. after 3 years he complained of metamorphopsia in his right eye with a decrease in subretinal deposits which improved spontaneously. the same sequence of event...

conclusions the results suggest no significant relationship between the severity of injury and risk of rsd occurrence, although the mean injury severity score was higher in patients with rsd than in those without rsd in this study population. the lower score of local circulation in patients with rsd than in those without rsd is a statistically significant finding and can be attributed to change...